Diastrophic dysplasia: the death of a variant.
Diastrophic dysplasia is a distinct autosomal recessive disorder originally described in 1960. Since that time, a number of patients with similar but less severe involvement have been diagnosed as having a "diastrophic variant" disorder. This study reviews the radiological features of classic diastrophic dysplasia and compares them with the radiological findings in 26 patients with the diastrophic variant disorder. It is concluded that there is a wide variability in the phenotypic expression of diastrophic dysplasia even within sibships, and that cases of diastrophic variant disorder are actually mild forms of diastrophic dysplasia.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002356:Cartilage / Q000473:pathology; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007717:Knee / Q000000981:diagnostic imaging; D007866:Leg / Q000000981:diagnostic imaging; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging